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PreviewIssue DateTitleAuthor(s)
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
2017Insights into the evolution of hydroxyproline-rich glycoproteins from 1000 plant transcriptomesJohnson, K.; Cassin, A.; Lonsdale, A.; Wong, G.-S.; Soltis, D.; Miles, N.; Melkonian, M.; Melkonian, B.; Deyholos, M.; Leebens-Mack, J.; Rothfels, C.; Stevenson, D.; Graham, S.; Wang, X.; Wu, S.; Pires, J.; Edger, P.; Carpenter, E.; Bacic, A.; Doblin, M.; et al.
2015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresYamamoto, T.; Shimojima, K.; Sangu, N.; Komoike, Y.; Ishii, A.; Abe, S.; Yamashita, S.; Imai, K.; Kubota, T.; Fukasawa, T.; Okanishi, T.; Enoki, H.; Tanabe, T.; Saito, A.; Furukawa, T.; Shimizu, T.; Milligan, C.; Petrou, S.; Heron, S.; Dibbens, L.; et al.; Ishii, R.
2013Distinctive expansion of potential virulence genes in the genome of the oomycete fish pathogen Saprolegnia parasiticaJiang, R.; de Bruijn, I.; Haas, B.; Belmonte, R.; Löbach, L.; Christie, J.; van den Ackerveken, G.; Bottin, A.; Bulone, V.; Díaz-Moreno, S.; Dumas, B.; Fan, L.; Gaulin, E.; Govers, F.; Grenville-Briggs, L.; Horner, N.; Levin, J.; Mammella, M.; Meijer, H.; Morris, P.; et al.; McDowell, J.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
2011Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaHahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al.
2014The sheep genome illuminates biology of the rumen and lipid metabolismJiang, Y.; Xie, M.; Chen, W.; Talbot, R.; Maddox, J.; Faraut, T.; Wu, C.; Muzny, D.; Li, Y.; Zhang, W.; Stanton, J.; Brauning, R.; Barris, W.; Hourlier, T.; Aken, B.; Searle, S.; Adelson, D.; Bian, C.; Cam, G.; Chen, Y.; et al.
2016Arrested hematopoiesis and vascular relaxation defects in mice with a mutation in DhfrThoms, J.A.I.; Knezevic, K.; Liu, J.J.; Glaros, E.N.; Thai, T.; Qiao, Q.; Campbell, H.; Packham, D.; Huang, Y.; Papathanasiou, P.; Tunningley, R.; Whittle, B.; Yeung, A.W.S.; Chandrakanthan, V.; Hesson, L.; Chen, V.; Wong, J.W.H.; Purton, L.E.; Ward, R.L.; Thomas, S.R.; et al.